Evaluation of ovarian reserve in young females with non-iatrogenic ovarian insufficiency to establish criteria for ovarian tissue cryopreservation.

Research Question: Can ovarian reserve parameters predict the outcome of ovarian tissue cryopreservation (OTCP) in patients ≤18 years with non-iatrogenic premature ovarian insufficiency (POI)?

Design: Retrospective cohort analysis carried out in a single tertiary hospital between August 2010 and January 2020. Thirty-seven patients ≤18 years with non-iatrogenic POI (27 with Turner syndrome, six with POI of unknown aetiology, three with galactosemia and one with blepharophimosis, ptosis, epicanthus inversus syndrome) were included. Three parameters were used to evaluate ovarian reserve: anti-Müllerian hormone (AMH), follicle-stimulating hormone (FSH) and transabdominal antral follicle count.

Transplantation of small ovarian tissue fragments using pipelle device is effective: method evaluation and reproductive outcomes.

Purpose: To assess the feasibility, effectiveness, and reproductive outcomes of transplantation of tiny cryopreserved ovarian pieces through a pipelle cannula during laparoscopic surgery.

Methods: A retrospective study of patients who underwent ovarian tissue transplantation for fertility restoration between 2004 and 2022. The "pipelle group" had their ovarian cortex cut into tiny pieces of ~ 1-2 mm before cryopreservation.

Granulosa Cell Dysfunction Is Associated With Diminished Ovarian Response in FMR1 Premutation Carriers.

Context: FMR1 premutation (PM) carriers are at increased risk of ovarian impairment resulting in diminished ovarian response (DOR) to exogenous follicle-stimulating hormone (FSH) stimulation. Expanded CGG repeat transcript and RAN-associated protein (FMRpolyG) have been shown to accumulate in cellular aggregates and sequester proteins, thus impairing their function. Sam68 is a multifunctional RNA-binding protein highly expressed in the gonads involved in FSH receptor (FSHR) transcript maturation during FSH-dependent follicular development.

Female fragile X premutation carriers are at increased risk for metabolic syndrome from early adulthood.

Background And Aims: Women with primary ovarian insufficiency exhibit an unfavorable cardiovascular risk profile. A common cause for primary ovarian insufficiency is fragile X premutation (FXPC), and data on the cardiovascular risk factors in women with FXPC are scarce. We aimed to assess the prevalences of abnormal metabolic components among FXPC.

Ovaries of patients recently treated with alkylating agent chemotherapy indicate the presence of acute follicle activation, elucidating its role among other proposed mechanisms of follicle loss.

Objective: To investigate mechanisms of primordial follicle (PMF) loss in vivo in human ovaries shortly after alkylating agent (AA) chemotherapy.

Design: Cohort study.

Setting: Tertiary university medical center.

Ethnicity has a multiplex impact upon the risk of a full mutation expansion among female heterozygotes for FMR1 premutation.

Purpose: To evaluate whether ethnicity affects the risk of full mutation expansion among females heterozygous for FMR1 premutation.

Methods: Women who carry the FMR1 premutation alelle of Jewish origin who underwent fragile X prenatal diagnosis between 2011 and 2018 in two medical centers in Israel were included. The heterozygote women and fetuses were analyzed for the number of CGG repeats and AGG interruptions.

Medical egg freezing: How cost and lack of insurance cover impact women and their families.

Medical egg freezing (MEF) is being recommended increasingly for women at risk of losing their reproductive ability due to cancer chemotherapy or other fertility-threatening medical conditions. This first, binational, ethnographic study of women who had undergone MEF sought to explore women's experiences under two different funding systems: (i) the USA, where the cost of MEF is rarely covered by private or state health insurance; and (ii) Israel, where the cost of MEF is covered by national health insurance. Women were recruited from four American and two Israeli in-vitro fertilization clinics where MEF is offered.

Challenges of fertility preservation in leukemia patients.

An ongoing increase in survival rates among young leukemia patients is accompanied by a growing attention to possible long-term complications such as chemotherapy induced ovarian insufficiency and infertility. Therefore, an important element of the management of these patients is fertility preservation, which is challenged by considerations specific for leukemia. Such considerations include prepuberty, poor medical condition on presentation and the need for urgent chemotherapy, all of which may preclude the use of conventional assisted reproductive technologies.

[FMR1 PREMUTATION CARRIERS - ARE THEY REALLY ASYMPTOMATIC?].

Fragile X Syndrome (FXS), the most common form of inherited mental retardation, is caused by a trinucleotide repeat expansion (CGG) in the 5'-untranslated region of the Fragile X Mental Retardation 1 (FMR1) gene located at Xq27.3. Patients with fragile X -related mental retardation, carry the full mutation CGG-repeat expansions (>200 CGG repeats), which are generally accompanied by hypermethylation of the promoter region, with the consequent transcriptional silencing of the FMR1 gene and absence of the encoded FMR1 protein (FMRP).

Outcome of immature oocytes collection of 119 cancer patients during ovarian tissue harvesting for fertility preservation.

Purpose: Few clinical options for fertility preservation are available to females with cancer, and data about clinical outcomes is limited. Potential supplementary approaches to fertility preservation include retrieval of immature oocytes followed by in vitro maturation (IVM) and storage. The aim of this study was to evaluate post-thawing outcomes of immature oocytes collected both by transvaginal aspiration and from excised ovarian tissue.

First delivery in a leukemia survivor after transplantation of cryopreserved ovarian tissue, evaluated for leukemia cells contamination.

Objective: To describe a successful autologous ovarian tissue re-transplantation in a sterile leukemia survivor after evaluation for minimal residual disease and provide a review of the current literature.

Design: Presentation of a carefully designed workup taken to evaluate tissue for minimal residual disease, its limitations, and applicability to other patients. To date, there have not been any publications of auto-transplantations in leukemia survivors, owing to an estimated high risk for malignancy induction.

Medical egg freezing: the importance of a patient-centered approach to fertility preservation.

Purpose: This binational qualitative study of medical egg freezing (MEF) examined women's motivations and experiences, including their perceived needs for patient-centered care in the midst of fertility- and life-threatening diagnoses.

Methods: Forty-five women who had undertaken MEF were interviewed in the USA (33 women) and in Israel (12 women) between June 2014 and August 2016. Interviews lasted approximately 1 h and were conducted by two senior medical anthropologists, one in each country.

Transplantations of frozen-thawed ovarian tissue demonstrate high reproductive performance and the need to revise restrictive criteria.

Objective: To report the single-center results of orthotopic retransplantations of cryopreserved ovarian tissue in cancer survivors and evaluate the validity of commonly accepted procedure limitations.

Design: Prospective cohort study.

Setting: Tertiary university-affiliated assisted reproduction technology (ART) and oncology centers.

Second international consensus guidelines for breast cancer in young women (BCY2).

The 2nd International Consensus Conference for Breast Cancer in Young Women (BCY2) took place in November 2014, in Dublin, Ireland organized by the European School of Oncology (ESO). Consensus recommendations for the management of breast cancer in young women (BCYW) were updated from BCY1 with incorporation of new evidence to inform the guidelines, and areas of research priorities were identified. This manuscript summarizes these international consensus recommendations, which are also endorsed by the European Society of Breast Specialists (EUSOMA).

BRCA mutation carriers show normal ovarian response in in vitro fertilization cycles.

Objective: To evaluate the association between carriage of BRCA1/2 mutations and ovarian performance, as demonstrated by in vitro fertilization (IVF) outcomes.

Design: Retrospective cohort study.

Setting: Two tertiary IVF centers.

Fertility preservation in young females with hematological malignancies.

Impaired reproductive function and possible infertility are major concerns in long-term survivors of hematological malignancies. The ongoing increase in the survival rates of these patients is therefore accompanied with a growing demand for effective, safe and specifically tailored fertility preservation options. When approaching patients facing hematological malignancy, an individual evaluation of potential infertility risks and possible preventive or preserving measures should be performed.

Tamoxifen co-administration during controlled ovarian hyperstimulation for in vitro fertilization in breast cancer patients increases the safety of fertility-preservation treatment strategies.

Objective: To evaluate the safety and efficacy of tamoxifen co-administration during conventional controlled ovarian hyperstimulation (COH) protocols for a fertility-preservation IVF cycle in breast cancer patients.

Design: Two groups: retrospective descriptive cohort study and prospective study.

Setting: Breast cancer oncology and fertility-preservation centers in a tertiary hospital.

Ovarian tissue cryopreservation and transplantation: a realistic, effective technology for fertility preservation.

It is clear that ovarian tissue cryopreservation can serve a very important role in providing fertility preservation. To date, more than 30 live human births have resulted from the transplantation of cryopreserved ovarian tissue, proving the successful implementation of this technique. The ideal conditions for ovarian tissue cryopreservation have yet to be determined, indicating the crucial need for more research in this field.

BRCA1/2 mutations and FMR1 alleles are randomly distributed: a case control study.

BRCA mutation carriers were reported to display a skewed distribution of FMR1 genotypes, predominantly within the low normal range (CGG repeat number <26). This observation led to the interpretation that BRCA1/2 mutations are embryo-lethal, unless rescued by 'low FMR1 alleles'. We undertook to re-explore the distribution of FMR1 alleles subdivided into low, normal and high (<26, 26-34, and >34 CGG repeats, respectively) subgenotypes, on a cohort of 125 Ashkenazi women, carriers of a BRCA1/2 founder mutation.

Luteal phase oocyte retrieval and in vitro maturation is an optional procedure for urgent fertility preservation.

Objective: To compare the results of in vitro maturation (IVM) of oocytes for fertility preservation performed during the luteal phase of the cycle with those of IVM performed during the follicular phase.

Design: Retrospective chart review (August 2007 to June 2009).

Setting: Academic tertiary referral fertility center.

Non-classical 21-hydroxylase deficiency: prevalence in males with unexplained abnormal sperm analysis.

Objective: To evaluate the prevalence of nonclassical 21-hydroxylase deficiency (NC-21OHD) in men with abnormal sperm parameters of unexplained etiology compared with males with normal sperm analysis.

Design: Case control study.

Setting: Major tertiary medical center.

Selection of patients before and after anticancer treatment for ovarian cryopreservation.

Background: Although ovarian cryopreservation in patients with cancer should ideally be performed before the initiation of therapy, cryopreservation from such patients often becomes an option only later. The justification for the procedure needs to be elucidated.

Methods: Eighteen cancer patients before chemotherapy and 23 others after chemotherapy participated in the study.

Leptin and its receptors in human fetal and adult ovaries.

The objective of the study was to investigate the immunocytochemical expression and presence of messenger RNA (mRNA) transcripts for leptin and its receptors in ovaries from human adults and adolescents and second- and third-trimester fetuses. Staining for leptin and the long form of its receptor was identified in oocytes of follicles from primordial stages onward, and for leptin only in granulosa cells of a minority of the samples. Expression of mRNA transcripts for both ligands was detected in all the samples tested.